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■ Abbreviation / Long Form : FRDA / Friedreich's ataxia

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Total Number of Papers: 651
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Abbreviation:   FRDA  (>> Co-occurring Abbreviation)
Long Form:   Friedreich's ataxia
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2020 A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients. BDNF, CTRL, FXN, GAA, ZFN
2020 A novel solution-gated graphene transistor biosensor for ultrasensitive detection of trinucleotide repeats. FXN, SGGT, TNRs
2020 A wearable video-oculography based evaluation of saccades and respective clinical correlates in patients with early onset ataxia. CAs, EOA, SARA
2020 Age of onset determines intrinsic functional brain architecture in Friedreich ataxia. FXN, MEG, rsFC
2020 Analysis of Putative Epigenetic Regulatory Elements in the FXN Genomic Locus. FXN, GAA
2020 Assessment of Disease Progression in Friedreich Ataxia using an Instrumented Self Feeding Activity. ---
2020 Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia. CCAS, DN
2020 Cerebellum and cognition in Friedreich ataxia: a voxel-based morphometry and volumetric MRI study. HC, SUIT, VBM
2020 Cofilin dysregulation alters actin turnover in frataxin-deficient neurons. Arp, CIN, DRG, GC
10  2020 Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia. FXN, LOFA, LR-PCR
11  2020 Correlation of Visual Quality of Life With Clinical and Visual Status in Friedreich Ataxia. ---
12  2020 CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. crRNAs, FXN, HSPC
13  2020 Defining Transcription Regulatory Elements in the Human Frataxin Gene: Implications for Gene Therapy. FXN, iPSCs
14  2020 Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich's ataxia. CCFS, SARA
15  2020 DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms. 5mC, FXS, GC
16  2020 Emerging therapies in Friedreich's Ataxia. ASOs, HDAC, IFN-gamma, Nrf2, Tat
17  2020 Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival. HAX-1, PBMCs, qRT-PCR
18  2020 Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue. BAT, FXN, KIKO, T2D
19  2020 Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons. DRG organoids
20  2020 Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance. SCA
21  2020 Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort. BLCS, HRQoL, IVIS
22  2020 Health-related quality of life and depressive symptoms in Friedreich ataxia. HRQoL
23  2020 Hereditary spastic paraplegia type 11 (SPG11) is associated with obesity and hypothalamic damage. SPG11
24  2020 HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich's Ataxia. DRG, FXN, HMTase
25  2020 Identification of a Novel Oleic Acid Analog with Protective Effects in Multiple Cellular Models of Friedreich Ataxia. ---
26  2020 Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells. FXN
27  2020 Large-scale contractions of Friedreich's ataxia GAA repeats in yeast occur during DNA replication due to their triplex-forming ability. GAA, ssDNA
28  2020 Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice. FXN, IRP1
29  2020 Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA. TMT
30  2020 Longitudinal Study of Cognitive Functioning in Friedreich's Ataxia. ---
31  2020 Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia. FXN, G130V
32  2020 Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients. ---
33  2020 Neurofilament light chain as a potential biomarker of disease status in Friedreich ataxia. NfL
34  2020 Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort. SARA
35  2020 Ocular Involvement in Friedreich Ataxia Patients and its Relationship with Neurological Disability, a Follow-up Study. BCVA, GCC, HC, OCT, pRNFL, SARA, VF
36  2020 Onset features and time to diagnosis in Friedreich's Ataxia. ---
37  2020 Particle-mediated delivery of frataxin plasmid to a human sensory neuronal model of Friedreich's ataxia. ---
38  2020 Predictors of Left Ventricular Dysfunction in Friedreich's Ataxia in a 16-Year Observational Study. CI, LV, LVEDD, LVEF, OR, SWT
39  2020 Predictors of loss of ambulation in Friedreich's ataxia. FA-COMS, FARA, FARS, LoA
40  2020 Primary proprioceptive neurons from human induced pluripotent stem cells: a cell model for afferent ataxias. iPSCs
41  2020 Progress towards drug discovery for Friedreich's Ataxia: Identifying synthetic oligonucleotides that more potently activate expression of human frataxin protein. FXN
42  2020 Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study. FARS, LV, MRI
43  2020 Safety and Efficacy of Omaveloxolone in Friedreich's Ataxia (MOXIe Study). mFARS
44  2020 Sexual function, intimate relationships and Friedreich ataxia. SD
45  2020 Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy. ---
46  2020 The Assessment of Upper Limb Functionality in Friedreich Ataxia via Self-Feeding Activity. DTW, RF
47  2020 The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype. CMT
48  2020 Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R2 and R1 relaxometry. ANCOVA, MRI, VBM, VOI
49  2020 Vestibular impact of Friedreich ataxia in early onset patients. ABR, DPOAEs, EVAR, HIT
50  2019 Altered neocortical tactile but preserved auditory early change detection responses in Friedreich ataxia. MEG, MMN
51  2019 Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures. SCAFI
52  2019 Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia. FXN
53  2019 Changes detected in swallowing function in Friedreich ataxia over 12 months. FDA-2
54  2019 Correlation between frataxin expression and contractility revealed by in vitro Friedreich's ataxia cardiac tissue models engineered from human pluripotent stem cells. CM, FXN, hvCAS, hvCTS
55  2019 Developmental and neurodegenerative damage in Friedreich's ataxia. MRI
56  2019 Diagnostics and Treatments of Iron-Related CNS Diseases. AD, ALS, MS, PD
57  2019 Efficient electroporation of neuronal cells using synthetic oligonucleotides: identifying duplex RNA and antisense oligonucleotide activators of human frataxin expression. 2'-MOE, ASOs, cEt, FXN, iPSC-NPCs
58  2019 Erythropoietin and Friedreich Ataxia: Time for a Reappraisal? EPO
59  2019 Evaluation of antibodies for western blot analysis of frataxin protein isoforms. PAGE
60  2019 Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia. CKC, SARA
61  2019 Ferroptosis as a Novel Therapeutic Target for Friedreich's Ataxia. FAC
62  2019 Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience. FXN
63  2019 Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil. ---
64  2019 GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models. ATP, MPP
65  2019 Guidelines on the diagnosis and management of the progressive ataxias. G-I-N, HCPs, SCA
66  2019 Heart disease in Friedreich's ataxia. ---
67  2019 Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis. FXN
68  2019 Iron Pathophysiology in Friedreich's Ataxia. FXN
69  2019 Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity. BSA, LV, LVEF, RWT, SWT
70  2019 Measuring peripheral nerve involvement in Friedreich's ataxia. ENFD, FARS, MC, NCS, QST, RCM
71  2019 Mechanism of activation of the human cysteine desulfurase complex by frataxin. ACP, Fe-S, FXN, PLP
72  2019 Molecular Mechanisms and Therapeutics for the GAATTC Expansion Disease Friedreich Ataxia. ---
73  2019 New developments in pharmacotherapy for Friedreich ataxia. ---
74  2019 Open-label pilot study of oral methylprednisolone for the treatment of patients with friedreich ataxia. 1MW, 9HPT, FARS, T25FW
75  2019 Orphan Drugs In Development For The Treatment Of Friedreich's Ataxia: Focus On Omaveloxolone. Omav
76  2019 Pattern of Cerebellar Atrophy in Friedreich's Ataxia-Using the SUIT Template. VBM
77  2019 Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model. DRG, ETC, GPCRs, OXPHOS, PDE
78  2019 Probing the multifactorial source of hand dysfunction in Friedreich ataxia. MTS
79  2019 Progress in understanding Friedreich's ataxia using human induced pluripotent stem cells. FXN, iPSCs
80  2019 Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia. FARR
81  2019 Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich's Ataxia (FRDA) Patients. 2-D DIGE, ACTC1, BVA, PDHE1, PPI
82  2019 SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia. ---
83  2019 Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism. FXN, ISC
84  2019 Targeting NRF2 for the Treatment of Friedreich's Ataxia: A Comparison among Drugs. ---
85  2019 The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C. CMT4C, SH3TC2
86  2019 The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models. ROS
87  2019 The role of mitochondrial labile iron in Friedreich's ataxia skin fibroblasts sensitivity to ultraviolet A. LI, ROS, UVA
88  2019 Therapeutic Prospects for Friedreich's Ataxia. ---
89  2019 Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures. CNS, FXN, HDACi, iPSC
90  2018 Activating frataxin expression by single-stranded siRNAs targeting the GAA repeat expansion. ASOs, FXN, ss-siRNAs
91  2018 Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises. SG
92  2018 Autonomic function testing in Friedreich's ataxia. CAFT
93  2018 Calcium Deregulation: Novel Insights to Understand Friedreich's Ataxia Pathophysiology. CGNs, ER, RyRs, SR
94  2018 Cerebral abnormalities in Friedreich ataxia: A review. ---
95  2018 Chemical synthesis of lipophilic methylene blue analogues which increase mitochondrial biogenesis and frataxin levels. ---
96  2018 Cognitive and functional connectivity alterations in Friedreich's ataxia. FC, HC, rs-fMRI
97  2018 Corneal confocal microscopy: Neurologic disease biomarker in Friedreich ataxia. CCM, FARS, SARA
98  2018 Depressive symptoms in Friedreich ataxia. ---
99  2018 Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry. DM
100  2018 Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia. FXN, LV, RV, SWT, TDI